EARLY ONSET MARFAN SYNDROME: ATYPICAL CLINICAL PRESENTATION OF TWO CASES

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OZYURT A., BAYKAN A., ARGÜN M., PAMUKÇU Ö., HALIS H., KORKUT S., ...Daha Fazla

BALKAN JOURNAL OF MEDICAL GENETICS, cilt.18, sa.1, ss.71-76, 2015 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 18 Sayı: 1
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1515/bjmg-2015-0008
  • Dergi Adı: BALKAN JOURNAL OF MEDICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.71-76
  • Anahtar Kelimeler: Craniosynostosis, Early onset Marfan Syndrome (eoMFS), Heart failure, Neonatal Marfan Syndrome (MFS), Pediatric, Supraventricular tachycardia, MUTATIONS, GENE
  • Erciyes Üniversitesi Adresli: Evet

Özet

Early onset Marfan Syndrome (eoMFS) is a rare, severe form of Marfan Syndrome (MFS). The disease has a poor prognosis and most patients present with resistance to heart failure treatment during the newborn period. This report presents two cases of eoMFS with similar clinical features diagnosed in the newborn period and who died at an early age due to the complications related to the involvement of the cardiovascular system.